Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies (NEDMABA)

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OMIM® 57 618622 MeSH 44 D065886 MedGen 41 C5231431 CN262441

SNOMED-CT via HPO 68 109504005 111007000 111246005 128613002 16026008 18910001 199612005 205082007 205359003 22033007 224958001 22810007 246545002 246800008 246802000 248409006 253251006 258211005 275478007 282020008 301348000 304068004 313307000 367494004 398151007 398152000 41581000 423230008 44593008 49550006 56731001 73211009 77016009 84757009 91175000 95427009 more EFO 17 EFO_0010631

OMIM® : ⁵⁷ Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA) is an autosomal recessive disorder characterized by severe global developmental delay, usually with hypotonia and absence of spontaneous movements other than head control, impaired intellectual development with absent speech, distal contractures, progressive microcephaly, dysmorphic features, and distal skeletal abnormalities, such as rocker-bottom feet and clenched hands with camptodactyly. Brain imaging tends to show a simplified gyral pattern of the cerebral cortex, delayed myelination, thin corpus callosum, and hypoplasia of the brainstem and cerebellum. The disorder may be complicated by feeding and/or breathing difficulties, often resulting in death in infancy (summary by Magini et al., 2019). (618622) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies, is also known as nedmaba. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies is SMPD4 (Sphingomyelin Phosphodiesterase 4). Affiliated tissues include brain, cortex and cerebellum, and related phenotypes are short neck and diabetes mellitus

UniProtKB/Swiss-Prot : ⁷³ Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies: An autosomal recessive disorder characterized by severe global developmental delay, severely impaired intellectual development with poor or absent speech, severe encephalopathy, microcephaly with simplified gyral pattern, hypomyelination, thin corpus callosum, mild cerebellar hypoplasia, brainstem hypoplasia, congenital arthrogryposis, dysmorphic features, and respiratory problems often leading to early demise.

Clinical features from OMIM®:

618622 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies.